A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease

Muscle & Nerve
Kishore R KumarCarolyn M Sue

Abstract

We investigated a 62-year-old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G-to-A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene. Clinicogenetic studies performed on his family revealed that his asymptomatic son also shared the mutation. We conclude that a novel chloride channel mutation (G1652A) has caused a mild form of autosomal-dominant myotonia congenita (Thomsen disease) in this family.

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Citations

Jul 17, 2010·Current Opinion in Neurology·Dipa L Raja Rayan, Michael G Hanna

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